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Items: 1 to 20 of 157

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7057609inversion1nstd229human GRCh38 chr2: 219,289,230-219,302,892 , GRCh37.p13 chr2: 220,153,952-220,167,614 MIR153-1, PTPRN
    nsv7048316inversion1nstd229human GRCh38 chr2: 217,690,925-222,070,373 , GRCh37.p13 chr2: 218,555,648-222,935,092 LOC105373895, CXCR2P1, 119 more genes
    nsv6697229copy number variation1nstd229human GRCh38 chr2: 219,290,591-219,295,579 , GRCh37.p13 chr2: 220,155,313-220,160,301 MIR153-1, PTPRN
    nsv6691735copy number variation1nstd229human GRCh38 chr2: 219,287,188-219,294,745 , GRCh37.p13 chr2: 220,151,910-220,159,467 PTPRN, MIR153-1, 1 more genes
    nsv6684829copy number variation1nstd229human GRCh38 chr2: 219,293,714-219,353,775 , GRCh37.p13 chr2: 220,158,436-220,218,497 RESP18, MIR153-1, 2 more genes
    nsv6346585copy number variation1nstd223human GRCh38 chr2: 219,120,801-219,643,000 , GRCh37.p13 chr2: 219,985,523-220,507,722 OBSL1, DNAJB2, 32 more genes
    nsv6343381copy number variation1nstd223human GRCh38 chr2: 219,100,201-219,804,900 , GRCh37.p13 chr2: 219,964,923-220,669,621 CHPF, TMEM198, 38 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6313686copy number variation1nstd102humanPathogenic GRCh37 chr2: 215,108,009-221,679,980 , GRCh38.p12 chr2: 214,243,285-220,815,260 BCS1L, LOC105373880, 160 more genes
    nsv6313668copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,606,537-239,217,703 , GRCh38.p12 chr2: 218,741,814-238,309,062 LOC105373947, RN7SL764P, 357 more genes
    nsv6311374copy number variation2nstd102humanUncertain significance GRCh37 chr2: 218,999,525-220,435,954 , GRCh38.p12 chr2: 218,134,802-219,571,232 CHPF, WNT6, 83 more genes
    nsv6112757copy number variation1nstd102humanPathogenic GRCh37 chr2: 220,056,891-227,164,817 , GRCh38.p12 chr2: 219,192,169-226,300,101 DES, SPEG, 100 more genes
    nsv5961464insertion1nstd209human GRCh38 chr2: 219,296,111-219,296,111 , GRCh37.p13 chr2: 220,160,833-220,160,833 PTPRN
    nsv5684821mobile element insertion1nstd211human GRCh38 chr2: 219,304,532-219,304,532 , GRCh37.p13 chr2: 220,169,254-220,169,254 PTPRN
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5450633copy number variation1nstd206human GRCh38 chr2: 219,294,648-219,294,736 , GRCh37.p13 chr2: 220,159,370-220,159,458 MIR153-1, PTPRN
    nsv5405510mobile element insertion1nstd206human GRCh38 chr2: 219,304,532-219,304,583 , GRCh37.p13 chr2: 220,169,254-220,169,305 PTPRN
    nsv5215828copy number variation1nstd204human GRCh38.p13 chr2: 219,192,501-219,347,300 , GRCh37.p13 chr2: 220,057,223-220,212,022 DNAJB2, TUBA4B, 10 more genes
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
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